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CAAGCACTGATACTCGCCCAGGCTC[C/T]GCTCCTTGCCTTCAGTCTGCACCAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300162 MIM: 400011 | |||||||||||||||||||||||
Literature Links: |
ASMTL PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
ASMTL - acetylserotonin O-methyltransferase-like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173473.1 | 1806 | Missense Mutation | CAG,CGG | Q,R 527 | NP_001166944.1 | |
NM_001173474.1 | 1806 | Missense Mutation | CAG,CGG | Q,R 569 | NP_001166945.1 | |
NM_004192.3 | 1806 | Missense Mutation | CAG,CGG | Q,R 585 | NP_004183.2 | |
XM_005274434.3 | 1806 | Missense Mutation | CAG,CGG | Q,R 585 | XP_005274491.1 | |
XM_011546185.2 | 1806 | Missense Mutation | CAG,CGG | Q,R 502 | XP_011544487.1 | |
XM_017029919.1 | 1806 | Missense Mutation | CAG,CGG | Q,R 476 | XP_016885408.1 |